Canonical Allele Identifier: CA2410989299

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50684651G= , CM000684.2:g.50684651G=	GRCh38
NC_000022.10:g.51123079G= , CM000684.1:g.51123079G=	GRCh37
NC_000022.9:g.49469945G=	NCBI36
NG_008607.2:g.15010G=
NG_070230.1:g.20379G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001372044.2:c.1255G= MANE Select	NP_001358973.1:p.Val419=
NM_001372044.1:c.1255G=	NP_001358973.1:p.Val419=
NM_033517.1:c.1030G=	NP_277052.1:p.Val344=
ENST00000262795.5:c.1030G=	ENSP00000489147.1:p.Val344=
ENST00000262795.6:c.673G=	ENSP00000489147.2:p.Val225=
ENST00000262795.7:c.673G=	ENSP00000489147.2:p.Val225=
ENST00000414786.6:n.1257G=
ENST00000414786.7:n.1257G=
ENST00000445220.5:c.1030G=	ENSP00000489407.1:p.Val344=
ENST00000673971.1:c.1030G=	ENSP00000501192.1:p.Val344=
ENST00000673971.2:c.1030G=	ENSP00000501192.1:p.Val344=
ENST00000691768.1:n.993G=
ENST00000692848.1:c.1030G=	ENSP00000510794.1:p.Val344=